{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,6,4]],"date-time":"2025-06-04T16:31:20Z","timestamp":1749054680811},"reference-count":12,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2005,6,6]],"date-time":"2005-06-06T00:00:00Z","timestamp":1118016000000},"content-version":"vor","delay-in-days":5105,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Am. J. Med. Genet."],"published-print":{"date-parts":[[1991,6,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report on a girl with a previously undescribed de novo direct tandem duplication 4q involving the segment q23\u2192q27. Clinical manifestations included postnatal growth and psychomotor retardation, microcephaly, hirsute forehead, epicanthic folds, strabismus, depressed nasal bridge, long philtrum, small mouth, tetralogy of Fallot, and sacral dimple. Her phenotype is compared with that of previously reported cases of duplication 4q. An increased activity of the enzyme aspartylglucosaminidase (AGA) in cultured fibroblasts was demonstrated. This suggests possible assignment of the AGA gene to the chromosomal segment 4q23\u21924q27.<\/jats:p>","DOI":"10.1002\/ajmg.1320390412","type":"journal-article","created":{"date-parts":[[2005,6,11]],"date-time":"2005-06-11T13:27:42Z","timestamp":1118496462000},"page":"418-421","source":"Crossref","is-referenced-by-count":18,"title":["Interstitial tandem direct duplication of the long arm of chromosome 4 (q23\u2010q27) and possible assignment of the structural gene encoding human aspartylglucosaminidase to this segment"],"prefix":"10.1002","volume":"39","author":[{"given":"Fahed","family":"Halal","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Michel","family":"Vekemans","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David","family":"Chitayat","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2005,6,6]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.21.4.303"},{"key":"e_1_2_1_3_1","first-page":"1215","article-title":"Assignment of the structural gene encoding human aspartylglucosaminidase to the long arm of chromosome 4 (4q21\u21924qter)","volume":"36","author":"Aula P","year":"1984","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/pd.1970090904"},{"key":"e_1_2_1_5_1","first-page":"28","volume-title":"Clinical Atlas of Human Chromosomes","author":"de Grouchy J","year":"1977"},{"key":"e_1_2_1_6_1","first-page":"21","article-title":"La trisomie 4q partielle \u00e0 propos de trois observations","volume":"18","author":"Dutrillaux B","year":"1975","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_7_1","first-page":"52","article-title":"Partial duplication of the long arm of chromosome 4","volume":"23","author":"Fryns JP","year":"1980","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00278292"},{"key":"e_1_2_1_9_1","first-page":"110","article-title":"Monosomie\/trisomie 4q12\u2192q13 en mosa\u00efque chez une enfant arri\u00e8r\u00e9e et dysmorphique","volume":"25","author":"Pescia G","year":"1982","journal-title":"Ann G\u00e9n\u00e9t"},{"key":"e_1_2_1_10_1","first-page":"180","volume-title":"Catalogue of Unbalanced Chromosome Aberrations of Man","author":"Schinzel A","year":"1984"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320010103"},{"key":"e_1_2_1_12_1","first-page":"635","volume-title":"The Cytogenetics of Mammalian Autosomal Rearrangements","author":"Van Dyke DL","year":"1988"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00735742"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.1320390412","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.1320390412","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,23]],"date-time":"2023-10-23T12:02:12Z","timestamp":1698062532000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.1320390412"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1991,6,15]]},"references-count":12,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1991,6,15]]}},"alternative-id":["10.1002\/ajmg.1320390412"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.1320390412","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[1991,6,15]]}}}